Literature DB >> 6022911

Six cases of de Lange's syndrome; parental consanguinity in two.

P M Pearce, D B Pitt.   

Abstract

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Year:  1967        PMID： 6022911

Source DB:  PubMed          Journal:  Med J Aust        ISSN： 0025-729X            Impact factor:   7.738


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  5 in total

1.  Brachmann-de Lange syndrome in sibs.

Authors:  K K Naguib; A S Teebi; S A Al-Awadi; M J Marafie
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

2.  de Lange syndrome (Amsterdam dwarfism).

Authors:  D M MacDonald
Journal:  Proc R Soc Med       Date:  1973-12

3.  The expanding phenotypes of cohesinopathies: one ring to rule them all!

Authors:  Jessica Piché; Patrick Piet Van Vliet; Michel Pucéat; Gregor Andelfinger
Journal:  Cell Cycle       Date:  2019-09-13       Impact factor: 4.534

4.  Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

Authors:  Elena Infante; Gorka Alkorta-Aranburu; Areeg El-Gharbawy
Journal:  Clin Case Rep       Date:  2017-06-28

5.  Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Authors:  Maura Masciadri; Anna Ficcadenti; Donatella Milani; Francesca Cogliati; Maria Teresa Divizia; Lidia Larizza; Silvia Russo
Journal:  Front Neurol       Date:  2018-11-27       Impact factor: 4.003
  5 in total

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